What is sickle cell disease and what are the symptoms?

SICKLE cell disease is one of the most common genetic conditions, with between 12,500 and 15,000 people in England living with it.

It's a group of inherited conditions that sees red blood cells die early, leaving a shortage in supply of healthy red cells.

Sickle cell disease is a serious and lifelong condition. But it varies between individuals and, although it can lead to fatal complications, most people with it lead normal lives.

Although sickle cell can affect anyone, it occurs predominantly in people of African and African-Caribbean origin. But cases also occur in families originating from the Middle East, parts of India, the eastern Mediterranean, and South and Central America.

What is sickle cell disease?

Sickle cell disease refers to a number of conditions that effect the red blood cells in the body.

The most serious form of sickle cell disease is called sickle cell anaemia.

People with the disease produce unusually shaped red blood cells.

This abnormality then creates medical problems because the red blood cells do not live as long and can become stuck in the blood vessels.

This blocks blood flow around the body, which can lead to serious complications such as stroke, pain and eye problems.

Who can get sickle cell disease?

Anyone whose parents carry the faulty gene which causes sickle cell can be born with the disease.

If both parents have the faulty gene there is a 25 per cent chance of each child they have being born with the condition.

The parents themselves will often times not know that they are a carrier of the disease as they may not suffer from it.

The National Insitute for Health and Care Excellence (NICE) says an estimated one in every 2,000 babies in England are born with sickle cell disease.

The reason it occurs in some ethnicities more than others is because of a history of malaria, or migration from a malarial area.

Sickle cell trait or disease offers a protective effect against malaria in endemic regions, which has led to positive selection for the gene mutation.

What are the symptoms of sickle cell disease?

Symptoms can start from just a few months old.

Early discovery is key as children have few or no continuing symptoms if treatment is started early on.

Episodes of pain – known as sickle cell crises – are one of the most common warning signs, they occur when a blood vessel becomes blocked due to the abnormal shape of the red blood cells.

These "crises" can affect various areas of the body, including:

  • hands or feet (especially in young children)
  • ribs and breastbone
  • spine
  • pelvis
  • tummy
  • legs and arms

The frequency and severity of these episodes changes from person to person.

The average is one bad episode a year.

It is not always clear what triggers crises, some common causes include: weather (wind, rain or cold), dehydration, stress or strenuous activities.

Those with sickle cell are also more prone to infection – particularly if they are young – because the condition means that the body cannot fight bacteria and viruses as effectively.

Small infections such as colds can develop into possibly life threatening conditions like meningitis.

There are many other symptoms and possible problems that could affect those suffering with sickle cell disease. For a full list visit the NHS website.

What is the treatment for sickle cell?

The main target of treatment for sickle cell is to avoid triggers of pain crisis.

Doctors may advise a patient to drink lots of water, wear warm clothing so they don't get cold, or avoid sudden temperature changes.

There are also ways to manage a pain crises at home.

But if the episodes are severe or frequent, a patient may be given medicine such as hydroxyurea.

However, the NHS announced in October that a new life changing drug called Crizanlizumab will be rolled out to thousands of patients in England.

The new treatment will be made available to everyone over the age of 16 who suffer from multiple sickle cell crises.

It will be delivered by transfusion drip and will work by binding to a protein in the blood cells to prevent the restriction of blood and oxygen supply that lead to a sickle cell crisis.

The new drug is set to reduce the number of times a patient with sickle cell goes to A&E by two fifths.

Announcing the new treatment, Amanda Pritchard, NHS chief executive, said the drug deal, struck by the NHS, would help as many as 5,000 people over the next three years to have a much better quality of life.

Stem cell or bone marrow transplants are the only way to cure sickle cell disease.

Transplants are not used often because of the huge risks involved in the procedures.

Extreme treatments like this are only used when the long-term benefits of a transplant are deemed to outweigh the short term risk of the procedure.

What is sickle cell anaemia?

Anaemia caused by sickle cell disease is not the same as anaemia caused by iron deficiency.

Nearly everyone who has sickle cell disease will also have anaemia – a condition where the haemoglobin in the blood is low.

Haemoglobin is found in red blood cells and is what helps transport oxygen around the body.

Generally this does not cause any further symptoms, but if an affected person also gets infected with parvovirus – commonly known as slapped cheek syndrome (a condition that mainly effects children and babies and causes a bright red rash to appear on the cheeks) – they may need a blood transfusion.

The same treatment is used for children if they experience a swelling of the spleen, another cause of sudden onset anaemia.

Additional symptoms of this include: headaches, rapid heartbeat, dizziness and fainting due to a lack of oxygen through the body.

People with sickle cell anaemia are at a higher risk for stroke, hypertension (high blood pressure), organ damage, blindness, skin ulcers, and gallstones.

Who has sickle cell disease?

Sickle cell anaemia took the life of 42-year-old rapper Prodigy.

He suffered complications from a sickle cell anaemia crisis and did not respond to treatment.

And football stats analyst Evan Nathan Smith, 21, died after calling 999 from his hospital bed when ‘staff refused him oxygen’.

Doctors told an inquest in 2021 that Evan, who was in North Middlesex Hospital in north London for sepsis – which triggered a sickle cell crisis – most likely would have survived had he been given the right treatment.

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